US issues professional guidance on genomic testing

10 April 2012

The American College of Medical Genetics and Genomics (ACMG) has released a new Policy Statement on Genomic Sequencing.

Points to Consider in the Clinical Application of Genomic Sequencing sets out recommended guidelines for doctors highlighting situations where testing is likely to be most useful and what patients need to know. These refer solely to the use of genome sequencing as a diagnostic tool for patients with known or suspected genetic disorders, as opposed to any wider applications such as tumour analysis.

The guidance says that only clinical geneticists or genetics counsellors should counsel patients and obtain consent for testing, and outlines general principles to ‘guide the use of information from genomic sequencing to improve patient care and medical decision-making’, emphasising the importance of using this data alongside other family history and clinical information and with suitably expert interpretation by clinical geneticists.

The need for practitioners to have clear policies on the disclosure of secondary or incidental findings from genomic analysis is also noted.

ACMG President Dr Wayne Grody said: “The transition from traditional targeted gene testing to genome-wide analysis constitutes a genuine sea change in medicine, offering vastly enhanced diagnostic power along with unprecedented challenges in test interpretation and reporting”. The College anticipates frequent updates to the professional guidance due to the rapid evolution of clinical genome sequencing.